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Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Hum Mutat. 1997; 10(1):49-57.HM

Abstract

Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population.

Authors+Show Affiliations

Department of Pediatrics, University of Vienna, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9222760

Citation

Greber-Platzer, S, et al. "Molecular Heterogeneity of Classical and Duarte Galactosemia: Mutation Analysis By Denaturing Gradient Gel Electrophoresis." Human Mutation, vol. 10, no. 1, 1997, pp. 49-57.
Greber-Platzer S, Guldberg P, Scheibenreiter S, et al. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat. 1997;10(1):49-57.
Greber-Platzer, S., Guldberg, P., Scheibenreiter, S., Item, C., Schuller, E., Patel, N., & Strobl, W. (1997). Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Human Mutation, 10(1), 49-57.
Greber-Platzer S, et al. Molecular Heterogeneity of Classical and Duarte Galactosemia: Mutation Analysis By Denaturing Gradient Gel Electrophoresis. Hum Mutat. 1997;10(1):49-57. PubMed PMID: 9222760.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. AU - Greber-Platzer,S, AU - Guldberg,P, AU - Scheibenreiter,S, AU - Item,C, AU - Schuller,E, AU - Patel,N, AU - Strobl,W, PY - 1997/1/1/pubmed PY - 2000/6/22/medline PY - 1997/1/1/entrez SP - 49 EP - 57 JF - Human mutation JO - Hum Mutat VL - 10 IS - 1 N2 - Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. D-1 increases, whereas D-2 decreases GALT activity. To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). DGGE detected 59 of the 60 classical galactosemia alleles. Q188R accounted for 60%, K285N accounted for 28% of these alleles. Eight novel candidate galactosemia mutations were found. On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/9222760/Molecular_heterogeneity_of_classical_and_Duarte_galactosemia:_mutation_analysis_by_denaturing_gradient_gel_electrophoresis_ L2 - https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H DB - PRIME DP - Unbound Medicine ER -